Rabbit anti Human ATPAF2 Antibody, Polyclonal, could be used for WB and so on.
Application:
WB: 1/500-1/2000
Relevance
ATPAF2 belongs to the ATP12 family. It may play a role in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase). Defects in ATPAF2 are the cause of complex V mitochondrial respiratory chain ATPAF2 subunit deficiency (ATPAF2 deficiency) [MIM:604273]; also called ATP synthase deficiency or ATPase deficiency. ATPAF2 deficiency seems to be an early presenting disease in which lactic acidosis, dysmorphic features, and methyl glutaconic aciduria can be major clues in the diagnosis. Dysmorphic features include a large mouth, prominent nasal bridge, micrognathia, rocker-bottom feet and flexion contractures of the limbs associated with camptodactyly. Patients are hypertonic and have an enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebro spinal fluid (CSF).